Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis

We have tested and subsequently successfully applied a single-needle approa ch to obtain blastomere biopsies from human preimplantation embryos for pre implantation genetic diagnosis (PGD). The method was first evaluated in a mouse system and shown to be compatible with a high degree of in vitro and in vivo development of biopsied mouse e mbryos. Furthermore, we showed that biopsied mouse embryos after transfer t o recipient mice underwent implantation, normal development and delivery. L itters were followed through puberty and adulthood and shown to be normal w ith regard to sexual function and also a panel of biochemical and morpholog ical parameters including organ histology. Successful human preimplantation diagnosis, followed by pregnancies and bir th of healthy babies, was established with two out of three couples carryin g a risk to transmit chromosomal abnormalities leading to severe disease. T his is the first report of the successful use of a single-needle approach i n human PGD. Considering its simplicity, we conclude that the single-needle approach is an attractive alternative for biopsies in PGD. Copyright (C) 1 998 John Wiley & Sons, Ltd.